Association of COL2A1 Gene Polymorphism with Degenerative Lumbar Scoliosis

• Published in: Clinics in orthopedic surgery Vol. 6; no. 4; pp. 379 - 384
• Main Authors: Hwang, Dae Woo, Kim, Ki Tack, Lee, Sang Hoon, Kim, Jung Youn, Kim, Dong Hwan
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Orthopaedic Association 01.12.2014; 대한정형외과학회
• Subjects: Aged; Asian Continental Ancestry Group; Collagen Type II - genetics; Female; Humans; Lumbar Vertebrae; Male; Middle Aged; Original; Polymorphism, Single Nucleotide; Scoliosis - ethnology; Scoliosis - genetics; 정형외과학; Korean; Degenerative lumbar scoliosis; COL2A1; Single nucleotide polymorphism
• ISSN: 2005-291X; 2005-4408; 2005-4408
• DOI: 10.4055/cios.2014.6.4.379

Degenerative lumbar scoliosis (DLS) progresses with aging after 50-60 years, and the genetic association of DLS remains largely unclear. In this study, the genetic association between collagen type II alpha 1 (COL2A1) gene and DLS was investigated. COL2A1 gene polymorphism was investigated in DLS subjects compared to healthy controls to investigate the possibility of its association with COL2A1 gene. Based on a single nucleotide polymorphism (SNP) database, SNP (rs2276454) in COL2A1 were selected and genotyped using direct sequencing in 51 patients with DLS and 235 healthy controls. The SNP effects were analyzed using three models of codominant, dominant, and recessive. Logistic regression models were calculated for odds ratios (ORs) with 95% confidence intervals (CIs) and corresponding p-values, controlling age and gender as co-variables. SNP (rs2276454) in COL2A1 was significantly associated with the degenerative lumbar scoliosis in the codominant (OR, 1.90; 95% CI, 1.17 to 3.10; p = 0.008) and dominant models (OR, 3.58; 95% CI, 1.59 to 9.29; p = 0.001). The results suggest that COL2A1 is associated with the risk of DLS in Korean population.